Results 1 to 10 of about 515,204 (293)
Genetic lessons learned from X‐linked Mendelian susceptibility to mycobacterial diseases [PDF]
Annals of the New York Academy of Sciences, 2011 Mendelian susceptibility to mycobacterial disease (MSMD) is a rare syndrome conferring predisposition to clinical disease caused by weakly virulent mycobacteria, such as Mycobacterium bovis Bacille Calmette Guérin (BCG) vaccines and nontuberculous, environmental mycobacteria (EM).
J. Bustamante +4 more
semanticscholar +3 more sources
Genes and Diseases, 2022 Sexual dimorphism has been reported in various human diseases including autoimmune diseases, neurological diseases, pulmonary arterial hypertension, and some types of cancers, although the underlying mechanisms remain poorly understood.
Jianjian Li +5 more
doaj +2 more sources
Coexisting genetic kidney disease explains many cases of ‘familial’ IgA nephropathy where the proband has biopsy-confirmed mesangial IgA deposits [PDF]
Frontiers in MedicineBackgroundOne in seven people with IgA nephropathy has another apparently-affected family member. This study examined how often biopsy-proven familial and sporadic IgA nephropathy were associated with genetic kidney disease.MethodsEleven unrelated people
YuXin Li +15 more
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An overview of Dent disease [PDF]
Childhood Kidney Diseases, 2023 Dent disease is a rare inherited kidney tubulopathy caused by mutations in either the CLCN5 (Dent disease 1) or OCRL1 (Dent disease 2) genes, and which is often underdiagnosed in practice.
Eun Mi Yang, Seong Hwan Chang
doaj +1 more source
Late ophthalmology findings in a X-linked juvenile retinoschisis patient [PDF]
Revista Brasileira de Oftalmologia, 2021 X-linked juvenile retinoschisis (XLRS) is a vitreoretinal degeneration caused by mutations in the RS1 gene, generally characterized by bilateral maculopathy and peripheral retinoschisis leading to progressive visual loss during the first 2 decades of ...
Paulo Rodolfo Tagliari Barbisan +1 more
doaj +1 more source
Ethics in pre-ART genetics: a missed X-linked Menkes disease case [PDF]
Journal of Assisted Reproduction and Genetics, 2023 AbstractAssisted reproductive technology (ART) has experienced dramatic progress over the last 30 years, and gamete donation is routine in fertility clinics. Major advances in genetic diagnostics are part of this development due to the ability to analyze multiple genes or whole genomes fast and to an affordable prize.
A.-M. A. Gerdes +2 more
openaire +3 more sources
Nature Reviews Endocrinology, 2022 X-linked hypophosphataemia (XLH) is the most frequent cause of hypophosphataemia-associated rickets of genetic origin and is associated with high levels of the phosphaturic hormone fibroblast growth factor 23 (FGF23).
A. Trombetti +26 more
semanticscholar +1 more source
Journal of Neuromuscular Diseases, 2021 X-linked myotubular myopathy (XLMTM) is a rare, life-threatening congenital myopathy characterized by profound skeletal muscle weakness, respiratory distress, and motor dysfunction.
C. Molera +13 more
semanticscholar +1 more source
Dermatoscopic aspects of the Microphthalmia with Linear Skin Defects (MLS) Syndrome [PDF]
Anais Brasileiros de Dermatologia, 2014 The association of microphthalmia and linear skin defects was named microphthalmia with linear skin defects syndrome (MLS) or MIDAS syndrome (microphthalmia, dermal aplasia, and sclerocornea), an X-chromosomal disorder manifesting mainly in females.
Hiram Larangeira de Almeida Jr. +5 more
doaj +1 more source
Anais Brasileiros de Dermatologia, 2014 Incontinentia pigmenti is a rare genodermatosis in which the skin involvement occurs in all patients. Additionally, other ectodermal tissues may be affected, such as the central nervous system, eyes, hair, nails and teeth.
Claudia Schermann Poziomczyk +12 more
doaj +1 more source